Test catalog
NeoGenoma Long
Whole genome sequenced with high-fidelity (HiFi) long reads, with analysis targeted to clinically relevant genes associated with the condition or family history.
- Accepted samples
- Peripheral blood (preferred), Buccal swab, Extracted DNA
- Turnaround time and when it starts
- 45 calendar days, after order confirmation
- Medical order
- Required. View requirements and limitations.
Test information
Technical details for NeoGenoma Long
Method, scope, requirements and limitations
Whole genome sequenced with high-fidelity (HiFi) long reads, with analysis targeted to clinically relevant genes associated with the condition or family history.
- Applications
- Rare and hereditary diseases, Genome-wide investigation
- Accepted samples
- Peripheral blood (preferred), Buccal swab, Extracted DNA
- Estimated turnaround time
- 45 calendar days, after order confirmation
- Methodology
- Whole genome sequencing exclusively with high-fidelity (HiFi) long reads on the PacBio platform, alignment to the GRCh38/hg38 reference genome, detection of SNVs and indels with DNAscope and of structural variants with DNAscope LongReadSV, and variant classification according to ACMG and ClinGen criteria.
- Analytical scope
- SNVs, small insertions and deletions, CNVs and structural variants such as inversions, translocations, duplications and large deletions, as well as repeat expansions and changes in high-homology and pseudogene regions, in clinically relevant genes.
- Medical order
- Required
Requirements
Medical request, diagnostic hypothesis, phenotypic data, family history, accepted sample and necessary clinical information.
Limitations
Low-allelic-fraction somatic mosaicism and epigenetic and methylation changes (imprinting) remain outside the reach of this methodology. Variants may go undetected in genome segments that are not adequately sequenced or are extremely complex, and the exact boundaries of CNVs and structural variants cannot be guaranteed for every event.
Additional information
A negative result does not exclude a genetic condition. Interpretation should take clinical information and, when indicated, genetic counseling into account.
